Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males
Incontinentia pigmenti (IP; Online Mendelian Inheritance in Man catalog #308300) is an X-linked dominant ectodermal disorder caused by mutations of the inhibitor of κ polypeptide gene enchancer in B cells, kinase γ ( )/ nuclear factor κB, essential modulator ( ) gene. Hemizygous loss-of-function (Lo...
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| Veröffentlicht in: | Pediatrics (Evanston) 2017-09, Vol.140 (3) |
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| creator | Fusco, Francesca Conte, Matilde Immacolata Diociaiuti, Andrea Bigoni, Stefania Branda, Maria Francesca Ferlini, Alessandra El Hachem, Maya Ursini, Matilde Valeria |
| description | Incontinentia pigmenti (IP; Online Mendelian Inheritance in Man catalog #308300) is an X-linked dominant ectodermal disorder caused by mutations of the inhibitor of κ polypeptide gene enchancer in B cells, kinase γ (
)/ nuclear factor κB, essential modulator (
) gene. Hemizygous
loss-of-function (LoF) mutations are lethal in males, thus patients are female, and the disease is always transmitted from an IP-affected mother to her daughter. We present 2 families with father-to-daughter transmission of IP and provide for the first time molecular evidence that the combination of somatic and germ-line mosaicism for
loss of function mutations in IP males resulted in the transmission of the disease to a female child. We searched for the
mutant allele in blood, urine, skin, and sperm DNA and found that the 2 fathers were somatic and germ-line mosaics for the p.Gln132×mutation or the exon 4-10 deletion of
, respectively. The highest level of
mutant cells was detected in the sperm, which might explain the recurrence of the disease. We therefore recommend careful clinical evaluation in IP male cases and the genetic investigation in sperm DNA to ensure correct genetic counseling and prevent the risk of paternal transmission of IP. |
| doi_str_mv | 10.1542/peds.2016-2950 |
| format | Article |
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)/ nuclear factor κB, essential modulator (
) gene. Hemizygous
loss-of-function (LoF) mutations are lethal in males, thus patients are female, and the disease is always transmitted from an IP-affected mother to her daughter. We present 2 families with father-to-daughter transmission of IP and provide for the first time molecular evidence that the combination of somatic and germ-line mosaicism for
loss of function mutations in IP males resulted in the transmission of the disease to a female child. We searched for the
mutant allele in blood, urine, skin, and sperm DNA and found that the 2 fathers were somatic and germ-line mosaics for the p.Gln132×mutation or the exon 4-10 deletion of
, respectively. The highest level of
mutant cells was detected in the sperm, which might explain the recurrence of the disease. We therefore recommend careful clinical evaluation in IP male cases and the genetic investigation in sperm DNA to ensure correct genetic counseling and prevent the risk of paternal transmission of IP.</description><identifier>ISSN: 0031-4005</identifier><identifier>EISSN: 1098-4275</identifier><identifier>DOI: 10.1542/peds.2016-2950</identifier><identifier>PMID: 28794079</identifier><language>eng</language><publisher>United States: American Academy of Pediatrics</publisher><subject>Adult ; Analysis ; Child ; Child, Preschool ; Clonal deletion ; Daughters ; Deoxyribonucleic acid ; Disease transmission ; DNA ; Fathers ; Female ; Genes, X-Linked ; Genetic aspects ; Genetic counseling ; Genetic disorders ; Genetic screening ; Germ-Line Mutation ; Hereditary diseases ; Heredity ; Humans ; I-kappa B Kinase - genetics ; Incontinentia pigmenti ; Incontinentia Pigmenti - genetics ; Lymphocytes B ; Male ; Males ; Mosaicism ; Mosaics ; Mutation ; Nuclear Family ; Pediatrics ; Pigmentation disorders ; Risk factors ; Skin ; Sperm ; Spermatozoa - metabolism ; Urine</subject><ispartof>Pediatrics (Evanston), 2017-09, Vol.140 (3)</ispartof><rights>Copyright © 2017 by the American Academy of Pediatrics.</rights><rights>Copyright American Academy of Pediatrics Sep 2017</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c467t-93f34ef4a5c4836842e4d715fa19de3dafdccaa23dabf6e7aa015988cb2f88593</citedby><cites>FETCH-LOGICAL-c467t-93f34ef4a5c4836842e4d715fa19de3dafdccaa23dabf6e7aa015988cb2f88593</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28794079$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fusco, Francesca</creatorcontrib><creatorcontrib>Conte, Matilde Immacolata</creatorcontrib><creatorcontrib>Diociaiuti, Andrea</creatorcontrib><creatorcontrib>Bigoni, Stefania</creatorcontrib><creatorcontrib>Branda, Maria Francesca</creatorcontrib><creatorcontrib>Ferlini, Alessandra</creatorcontrib><creatorcontrib>El Hachem, Maya</creatorcontrib><creatorcontrib>Ursini, Matilde Valeria</creatorcontrib><title>Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males</title><title>Pediatrics (Evanston)</title><addtitle>Pediatrics</addtitle><description>Incontinentia pigmenti (IP; Online Mendelian Inheritance in Man catalog #308300) is an X-linked dominant ectodermal disorder caused by mutations of the inhibitor of κ polypeptide gene enchancer in B cells, kinase γ (
)/ nuclear factor κB, essential modulator (
) gene. Hemizygous
loss-of-function (LoF) mutations are lethal in males, thus patients are female, and the disease is always transmitted from an IP-affected mother to her daughter. We present 2 families with father-to-daughter transmission of IP and provide for the first time molecular evidence that the combination of somatic and germ-line mosaicism for
loss of function mutations in IP males resulted in the transmission of the disease to a female child. We searched for the
mutant allele in blood, urine, skin, and sperm DNA and found that the 2 fathers were somatic and germ-line mosaics for the p.Gln132×mutation or the exon 4-10 deletion of
, respectively. The highest level of
mutant cells was detected in the sperm, which might explain the recurrence of the disease. We therefore recommend careful clinical evaluation in IP male cases and the genetic investigation in sperm DNA to ensure correct genetic counseling and prevent the risk of paternal transmission of IP.</description><subject>Adult</subject><subject>Analysis</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Clonal deletion</subject><subject>Daughters</subject><subject>Deoxyribonucleic acid</subject><subject>Disease transmission</subject><subject>DNA</subject><subject>Fathers</subject><subject>Female</subject><subject>Genes, X-Linked</subject><subject>Genetic aspects</subject><subject>Genetic counseling</subject><subject>Genetic disorders</subject><subject>Genetic screening</subject><subject>Germ-Line Mutation</subject><subject>Hereditary diseases</subject><subject>Heredity</subject><subject>Humans</subject><subject>I-kappa B Kinase - genetics</subject><subject>Incontinentia pigmenti</subject><subject>Incontinentia Pigmenti - genetics</subject><subject>Lymphocytes B</subject><subject>Male</subject><subject>Males</subject><subject>Mosaicism</subject><subject>Mosaics</subject><subject>Mutation</subject><subject>Nuclear Family</subject><subject>Pediatrics</subject><subject>Pigmentation disorders</subject><subject>Risk factors</subject><subject>Skin</subject><subject>Sperm</subject><subject>Spermatozoa - metabolism</subject><subject>Urine</subject><issn>0031-4005</issn><issn>1098-4275</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkTFvFDEQRi0EIkegpUSWaGh82F77bJfRhcBJiZIiabF83vHF0a592LsS_Hu8XKCgmZnizegbPYTeM7pmUvDPR-jrmlO2IdxI-gKtGDWaCK7kS7SitGNEUCrP0JtanyilQir-Gp1xrYygyqzQ94c019kN-MpNj1DIlMmlmw-PExR8X1yqY6w15oRzwLvkc5piglYcvouHcZnw5Qx4yvgmVxd9rCOOCe_u8I0boL5Fr4IbKrx77ufo4erL_fYbub79utteXBMvNmoipgudgCCc9EJ3Gy04iF4xGRwzPXS9C733zvE27cMGlHOUSaO13_OgtTTdOfp0unss-ccMdbItt4dhcAnyXC0zXGmupdIN_fgf-pTnklq6RgnKOddcNoqcqEN7w8Y_n8PPyedhgAPYFn57ay8k11RQIWjj1yfel1xrgWCPJY6u_LKM2sWUXUzZxZRdTLWFD88x5v0I_T_8r5ruN_mtjlw</recordid><startdate>201709</startdate><enddate>201709</enddate><creator>Fusco, Francesca</creator><creator>Conte, Matilde Immacolata</creator><creator>Diociaiuti, Andrea</creator><creator>Bigoni, Stefania</creator><creator>Branda, Maria Francesca</creator><creator>Ferlini, Alessandra</creator><creator>El Hachem, Maya</creator><creator>Ursini, Matilde Valeria</creator><general>American Academy of Pediatrics</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TS</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope><scope>M7N</scope><scope>NAPCQ</scope><scope>U9A</scope><scope>7X8</scope></search><sort><creationdate>201709</creationdate><title>Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males</title><author>Fusco, Francesca ; Conte, Matilde Immacolata ; Diociaiuti, Andrea ; Bigoni, Stefania ; Branda, Maria Francesca ; Ferlini, Alessandra ; El Hachem, Maya ; Ursini, Matilde Valeria</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c467t-93f34ef4a5c4836842e4d715fa19de3dafdccaa23dabf6e7aa015988cb2f88593</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Adult</topic><topic>Analysis</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Clonal deletion</topic><topic>Daughters</topic><topic>Deoxyribonucleic acid</topic><topic>Disease transmission</topic><topic>DNA</topic><topic>Fathers</topic><topic>Female</topic><topic>Genes, X-Linked</topic><topic>Genetic aspects</topic><topic>Genetic counseling</topic><topic>Genetic disorders</topic><topic>Genetic screening</topic><topic>Germ-Line Mutation</topic><topic>Hereditary diseases</topic><topic>Heredity</topic><topic>Humans</topic><topic>I-kappa B Kinase - genetics</topic><topic>Incontinentia pigmenti</topic><topic>Incontinentia Pigmenti - genetics</topic><topic>Lymphocytes B</topic><topic>Male</topic><topic>Males</topic><topic>Mosaicism</topic><topic>Mosaics</topic><topic>Mutation</topic><topic>Nuclear Family</topic><topic>Pediatrics</topic><topic>Pigmentation disorders</topic><topic>Risk factors</topic><topic>Skin</topic><topic>Sperm</topic><topic>Spermatozoa - metabolism</topic><topic>Urine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Fusco, Francesca</creatorcontrib><creatorcontrib>Conte, Matilde Immacolata</creatorcontrib><creatorcontrib>Diociaiuti, Andrea</creatorcontrib><creatorcontrib>Bigoni, Stefania</creatorcontrib><creatorcontrib>Branda, Maria Francesca</creatorcontrib><creatorcontrib>Ferlini, Alessandra</creatorcontrib><creatorcontrib>El Hachem, Maya</creatorcontrib><creatorcontrib>Ursini, Matilde Valeria</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Physical Education Index</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatrics (Evanston)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fusco, Francesca</au><au>Conte, Matilde Immacolata</au><au>Diociaiuti, Andrea</au><au>Bigoni, Stefania</au><au>Branda, Maria Francesca</au><au>Ferlini, Alessandra</au><au>El Hachem, Maya</au><au>Ursini, Matilde Valeria</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males</atitle><jtitle>Pediatrics (Evanston)</jtitle><addtitle>Pediatrics</addtitle><date>2017-09</date><risdate>2017</risdate><volume>140</volume><issue>3</issue><issn>0031-4005</issn><eissn>1098-4275</eissn><abstract>Incontinentia pigmenti (IP; Online Mendelian Inheritance in Man catalog #308300) is an X-linked dominant ectodermal disorder caused by mutations of the inhibitor of κ polypeptide gene enchancer in B cells, kinase γ (
)/ nuclear factor κB, essential modulator (
) gene. Hemizygous
loss-of-function (LoF) mutations are lethal in males, thus patients are female, and the disease is always transmitted from an IP-affected mother to her daughter. We present 2 families with father-to-daughter transmission of IP and provide for the first time molecular evidence that the combination of somatic and germ-line mosaicism for
loss of function mutations in IP males resulted in the transmission of the disease to a female child. We searched for the
mutant allele in blood, urine, skin, and sperm DNA and found that the 2 fathers were somatic and germ-line mosaics for the p.Gln132×mutation or the exon 4-10 deletion of
, respectively. The highest level of
mutant cells was detected in the sperm, which might explain the recurrence of the disease. We therefore recommend careful clinical evaluation in IP male cases and the genetic investigation in sperm DNA to ensure correct genetic counseling and prevent the risk of paternal transmission of IP.</abstract><cop>United States</cop><pub>American Academy of Pediatrics</pub><pmid>28794079</pmid><doi>10.1542/peds.2016-2950</doi><oa>free_for_read</oa></addata></record> |
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| ispartof | Pediatrics (Evanston), 2017-09, Vol.140 (3) |
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| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Adult Analysis Child Child, Preschool Clonal deletion Daughters Deoxyribonucleic acid Disease transmission DNA Fathers Female Genes, X-Linked Genetic aspects Genetic counseling Genetic disorders Genetic screening Germ-Line Mutation Hereditary diseases Heredity Humans I-kappa B Kinase - genetics Incontinentia pigmenti Incontinentia Pigmenti - genetics Lymphocytes B Male Males Mosaicism Mosaics Mutation Nuclear Family Pediatrics Pigmentation disorders Risk factors Skin Sperm Spermatozoa - metabolism Urine |
| title | Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males |
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