Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1
Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly type E). Here we describe a case that recentl...
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| Veröffentlicht in: | Acta bio-medica de l'Ateneo Parmense 2005-04, Vol.76 (1), p.45-48 |
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| container_title | Acta bio-medica de l'Ateneo Parmense |
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| creator | Garavelli, Livia Pedori, S Zanacca, C Caselli, G Loiodice, A Mantovani, G Ammenti, A Virdis, Raffaele Banchini, G |
| description | Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly type E). Here we describe a case that recently came to our attention of a girl suffering from seizures caused by hypocalcaemia, in which the clinical diagnosis of Albright's hereditary osteodystrophy and Pseudohypoparathyroidism (PHP) (Pseudohypoparathyroidism Ia) was confirmed by DNA molecular analysis. This analysis revealed a novel mutation of GNAS 1, resulting in the nonsense mutation of exon 13 (CAG-->TAG, codon 384). This result expands the spectrum of GNAS1 mutations associated with this disorder. |
| format | Article |
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Here we describe a case that recently came to our attention of a girl suffering from seizures caused by hypocalcaemia, in which the clinical diagnosis of Albright's hereditary osteodystrophy and Pseudohypoparathyroidism (PHP) (Pseudohypoparathyroidism Ia) was confirmed by DNA molecular analysis. This analysis revealed a novel mutation of GNAS 1, resulting in the nonsense mutation of exon 13 (CAG-->TAG, codon 384). This result expands the spectrum of GNAS1 mutations associated with this disorder.</description><identifier>ISSN: 0392-4203</identifier><identifier>PMID: 16116826</identifier><language>eng</language><publisher>Italy</publisher><subject>Chromogranins ; Exons ; Female ; Fibrous Dysplasia, Polyostotic - diagnosis ; Fibrous Dysplasia, Polyostotic - genetics ; Fingers - abnormalities ; GTP-Binding Protein alpha Subunits, Gs ; Heterozygote ; Humans ; Infant ; Metacarpus - abnormalities ; Mutation ; Phenotype ; Polymerase Chain Reaction ; Pseudohypoparathyroidism - diagnosis ; Pseudohypoparathyroidism - genetics ; Toes - abnormalities</subject><ispartof>Acta bio-medica de l'Ateneo Parmense, 2005-04, Vol.76 (1), p.45-48</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16116826$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Garavelli, Livia</creatorcontrib><creatorcontrib>Pedori, S</creatorcontrib><creatorcontrib>Zanacca, C</creatorcontrib><creatorcontrib>Caselli, G</creatorcontrib><creatorcontrib>Loiodice, A</creatorcontrib><creatorcontrib>Mantovani, G</creatorcontrib><creatorcontrib>Ammenti, A</creatorcontrib><creatorcontrib>Virdis, Raffaele</creatorcontrib><creatorcontrib>Banchini, G</creatorcontrib><title>Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1</title><title>Acta bio-medica de l'Ateneo Parmense</title><addtitle>Acta Biomed</addtitle><description>Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly type E). Here we describe a case that recently came to our attention of a girl suffering from seizures caused by hypocalcaemia, in which the clinical diagnosis of Albright's hereditary osteodystrophy and Pseudohypoparathyroidism (PHP) (Pseudohypoparathyroidism Ia) was confirmed by DNA molecular analysis. This analysis revealed a novel mutation of GNAS 1, resulting in the nonsense mutation of exon 13 (CAG-->TAG, codon 384). This result expands the spectrum of GNAS1 mutations associated with this disorder.</description><subject>Chromogranins</subject><subject>Exons</subject><subject>Female</subject><subject>Fibrous Dysplasia, Polyostotic - diagnosis</subject><subject>Fibrous Dysplasia, Polyostotic - genetics</subject><subject>Fingers - abnormalities</subject><subject>GTP-Binding Protein alpha Subunits, Gs</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Infant</subject><subject>Metacarpus - abnormalities</subject><subject>Mutation</subject><subject>Phenotype</subject><subject>Polymerase Chain Reaction</subject><subject>Pseudohypoparathyroidism - diagnosis</subject><subject>Pseudohypoparathyroidism - genetics</subject><subject>Toes - abnormalities</subject><issn>0392-4203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kLtOwzAART2AaCn8AvLEY4jkV9yEraqgVKpgoHvkV4iRExvbAeXviUSZ7h2Orq7OGVgiWpOCEUQX4DKlT4R4WTJ8ARaYY8wrwpdg3DgZ7UeX7xLsTDTaZhEn6FM2Xk8pRx-6Cd6HZEbtuyn4IKLI3RS91Tb1ME_BwL14eITK2cEq4aASycAfmzso4OC_jYP9mEW2foC-hbvXzTu-AuetcMlcn3IFjs9Px-1LcXjb7bebQxEwYbkw6_lkzRhXnOm5VZxKwhGWQpW6pmuia1lKJRGiknFNVUtEq7VWhpCaYroCt3-zIfqv0aTc9DYp45wYjB9Tw6sSz47YDN6cwFH2Rjch2n7W0Px7or-n22UW</recordid><startdate>200504</startdate><enddate>200504</enddate><creator>Garavelli, Livia</creator><creator>Pedori, S</creator><creator>Zanacca, C</creator><creator>Caselli, G</creator><creator>Loiodice, A</creator><creator>Mantovani, G</creator><creator>Ammenti, A</creator><creator>Virdis, Raffaele</creator><creator>Banchini, G</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200504</creationdate><title>Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1</title><author>Garavelli, Livia ; Pedori, S ; Zanacca, C ; Caselli, G ; Loiodice, A ; Mantovani, G ; Ammenti, A ; Virdis, Raffaele ; Banchini, G</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p124t-e76829446c64d829863b2601bac5d9372d9b5bcb003b46d3cf2afdddce229313</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Chromogranins</topic><topic>Exons</topic><topic>Female</topic><topic>Fibrous Dysplasia, Polyostotic - diagnosis</topic><topic>Fibrous Dysplasia, Polyostotic - genetics</topic><topic>Fingers - abnormalities</topic><topic>GTP-Binding Protein alpha Subunits, Gs</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Infant</topic><topic>Metacarpus - abnormalities</topic><topic>Mutation</topic><topic>Phenotype</topic><topic>Polymerase Chain Reaction</topic><topic>Pseudohypoparathyroidism - diagnosis</topic><topic>Pseudohypoparathyroidism - genetics</topic><topic>Toes - abnormalities</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Garavelli, Livia</creatorcontrib><creatorcontrib>Pedori, S</creatorcontrib><creatorcontrib>Zanacca, C</creatorcontrib><creatorcontrib>Caselli, G</creatorcontrib><creatorcontrib>Loiodice, A</creatorcontrib><creatorcontrib>Mantovani, G</creatorcontrib><creatorcontrib>Ammenti, A</creatorcontrib><creatorcontrib>Virdis, Raffaele</creatorcontrib><creatorcontrib>Banchini, G</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Acta bio-medica de l'Ateneo Parmense</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Garavelli, Livia</au><au>Pedori, S</au><au>Zanacca, C</au><au>Caselli, G</au><au>Loiodice, A</au><au>Mantovani, G</au><au>Ammenti, A</au><au>Virdis, Raffaele</au><au>Banchini, G</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1</atitle><jtitle>Acta bio-medica de l'Ateneo Parmense</jtitle><addtitle>Acta Biomed</addtitle><date>2005-04</date><risdate>2005</risdate><volume>76</volume><issue>1</issue><spage>45</spage><epage>48</epage><pages>45-48</pages><issn>0392-4203</issn><abstract>Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly type E). Here we describe a case that recently came to our attention of a girl suffering from seizures caused by hypocalcaemia, in which the clinical diagnosis of Albright's hereditary osteodystrophy and Pseudohypoparathyroidism (PHP) (Pseudohypoparathyroidism Ia) was confirmed by DNA molecular analysis. This analysis revealed a novel mutation of GNAS 1, resulting in the nonsense mutation of exon 13 (CAG-->TAG, codon 384). This result expands the spectrum of GNAS1 mutations associated with this disorder.</abstract><cop>Italy</cop><pmid>16116826</pmid><tpages>4</tpages></addata></record> |
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| ispartof | Acta bio-medica de l'Ateneo Parmense, 2005-04, Vol.76 (1), p.45-48 |
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| language | eng |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Chromogranins Exons Female Fibrous Dysplasia, Polyostotic - diagnosis Fibrous Dysplasia, Polyostotic - genetics Fingers - abnormalities GTP-Binding Protein alpha Subunits, Gs Heterozygote Humans Infant Metacarpus - abnormalities Mutation Phenotype Polymerase Chain Reaction Pseudohypoparathyroidism - diagnosis Pseudohypoparathyroidism - genetics Toes - abnormalities |
| title | Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1 |
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