Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region
Mucopolysaccharidosis (MPS) IVA is a rare autosomal recessive disease with a highly variable distribution worldwide. Discrepancies in the incidence of MPS IVA among populations of different ethnicities are mostly attributed to founder effects. Demographic and clinical data from 28 MPS IVA patients,...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2021-10, Vol.185 (10), p.2929-2940 |
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| creator | Santos‐Lopes, Simone Silva Oliveira, Jessica Maria Florêncio Queiroga Nascimento, Denise Montenegro, Yorran Hardman Araújo Leistner‐Segal, Sandra Brusius‐Facchin, Ana Carolina Eufrazino Gondim, Cátia Giugliani, Roberto Medeiros, Paula Frassinetti Vasconcelos |
| description | Mucopolysaccharidosis (MPS) IVA is a rare autosomal recessive disease with a highly variable distribution worldwide. Discrepancies in the incidence of MPS IVA among populations of different ethnicities are mostly attributed to founder effects. Demographic and clinical data from 28 MPS IVA patients, followed at a single center, and ancestry (Y chromosome and mitochondrial markers) of a subsample of 17 patients, most with the p.Ser341Arg (c.1023C>G) mutation were analyzed. Parental consanguinity was observed in 15/20 couples; a rare homozygous N‐acetylgalactosamine‐6‐sulfatase (GALNS) mutation was found in 7/16 families with intra‐familial phenotypic heterogeneity. Paternal ancestry was 94.2% (16/17) European, 5.8% (1/17) African, and 0% Amerindian. The European paternal haplogroups R1a, R1b, and R* accounted for 94.2% (16/17) of the patients. The R1b haplogroup, identified in 59% (10/17) of the patients, is frequently found in populations from the Iberian Peninsula. European, Amerindian, and African maternal ancestry was observed in 46.9% (8/17), 35.4% (6/17), and 17.7% (3/17) of the patients, respectively. Study of a cluster of MPS IVA patients from Northeastern Brazil, with high parental consanguinity and phenotypic heterogeneity showed predominantly European parental ancestry. This ancestry finding corroborates historical data on the local settlement, formed predominantly by European men. |
| doi_str_mv | 10.1002/ajmg.a.62375 |
| format | Article |
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Discrepancies in the incidence of MPS IVA among populations of different ethnicities are mostly attributed to founder effects. Demographic and clinical data from 28 MPS IVA patients, followed at a single center, and ancestry (Y chromosome and mitochondrial markers) of a subsample of 17 patients, most with the p.Ser341Arg (c.1023C>G) mutation were analyzed. Parental consanguinity was observed in 15/20 couples; a rare homozygous N‐acetylgalactosamine‐6‐sulfatase (GALNS) mutation was found in 7/16 families with intra‐familial phenotypic heterogeneity. Paternal ancestry was 94.2% (16/17) European, 5.8% (1/17) African, and 0% Amerindian. The European paternal haplogroups R1a, R1b, and R* accounted for 94.2% (16/17) of the patients. The R1b haplogroup, identified in 59% (10/17) of the patients, is frequently found in populations from the Iberian Peninsula. European, Amerindian, and African maternal ancestry was observed in 46.9% (8/17), 35.4% (6/17), and 17.7% (3/17) of the patients, respectively. Study of a cluster of MPS IVA patients from Northeastern Brazil, with high parental consanguinity and phenotypic heterogeneity showed predominantly European parental ancestry. This ancestry finding corroborates historical data on the local settlement, formed predominantly by European men.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.62375</identifier><identifier>PMID: 34076347</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Adolescent ; Adult ; Amino Acid Sequence - genetics ; ancestry ; Blacks - genetics ; Brazil - epidemiology ; Child ; Chondroitinsulfatases - genetics ; Chromosomes, Human, Y ; cluster ; Consanguinity ; Demography - statistics & numerical data ; DNA, Mitochondrial - genetics ; Female ; founder effect ; GALNS ; Genetic disorders ; Genetic Heterogeneity ; Haplotypes - genetics ; Humans ; Male ; Metabolic disorders ; Middle Aged ; Mitochondria ; Morquio A syndrome ; Mucopolysaccharidosis ; Mucopolysaccharidosis IV - epidemiology ; Mucopolysaccharidosis IV - genetics ; Mucopolysaccharidosis IV - pathology ; Mutation ; Mutation, Missense ; Patients ; Young Adult</subject><ispartof>American journal of medical genetics. 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Part A</title><addtitle>Am J Med Genet A</addtitle><description>Mucopolysaccharidosis (MPS) IVA is a rare autosomal recessive disease with a highly variable distribution worldwide. Discrepancies in the incidence of MPS IVA among populations of different ethnicities are mostly attributed to founder effects. Demographic and clinical data from 28 MPS IVA patients, followed at a single center, and ancestry (Y chromosome and mitochondrial markers) of a subsample of 17 patients, most with the p.Ser341Arg (c.1023C>G) mutation were analyzed. Parental consanguinity was observed in 15/20 couples; a rare homozygous N‐acetylgalactosamine‐6‐sulfatase (GALNS) mutation was found in 7/16 families with intra‐familial phenotypic heterogeneity. Paternal ancestry was 94.2% (16/17) European, 5.8% (1/17) African, and 0% Amerindian. The European paternal haplogroups R1a, R1b, and R* accounted for 94.2% (16/17) of the patients. The R1b haplogroup, identified in 59% (10/17) of the patients, is frequently found in populations from the Iberian Peninsula. European, Amerindian, and African maternal ancestry was observed in 46.9% (8/17), 35.4% (6/17), and 17.7% (3/17) of the patients, respectively. Study of a cluster of MPS IVA patients from Northeastern Brazil, with high parental consanguinity and phenotypic heterogeneity showed predominantly European parental ancestry. 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Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2021-10</date><risdate>2021</risdate><volume>185</volume><issue>10</issue><spage>2929</spage><epage>2940</epage><pages>2929-2940</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>Mucopolysaccharidosis (MPS) IVA is a rare autosomal recessive disease with a highly variable distribution worldwide. Discrepancies in the incidence of MPS IVA among populations of different ethnicities are mostly attributed to founder effects. Demographic and clinical data from 28 MPS IVA patients, followed at a single center, and ancestry (Y chromosome and mitochondrial markers) of a subsample of 17 patients, most with the p.Ser341Arg (c.1023C>G) mutation were analyzed. Parental consanguinity was observed in 15/20 couples; a rare homozygous N‐acetylgalactosamine‐6‐sulfatase (GALNS) mutation was found in 7/16 families with intra‐familial phenotypic heterogeneity. Paternal ancestry was 94.2% (16/17) European, 5.8% (1/17) African, and 0% Amerindian. The European paternal haplogroups R1a, R1b, and R* accounted for 94.2% (16/17) of the patients. The R1b haplogroup, identified in 59% (10/17) of the patients, is frequently found in populations from the Iberian Peninsula. European, Amerindian, and African maternal ancestry was observed in 46.9% (8/17), 35.4% (6/17), and 17.7% (3/17) of the patients, respectively. Study of a cluster of MPS IVA patients from Northeastern Brazil, with high parental consanguinity and phenotypic heterogeneity showed predominantly European parental ancestry. 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| subjects | Adolescent Adult Amino Acid Sequence - genetics ancestry Blacks - genetics Brazil - epidemiology Child Chondroitinsulfatases - genetics Chromosomes, Human, Y cluster Consanguinity Demography - statistics & numerical data DNA, Mitochondrial - genetics Female founder effect GALNS Genetic disorders Genetic Heterogeneity Haplotypes - genetics Humans Male Metabolic disorders Middle Aged Mitochondria Morquio A syndrome Mucopolysaccharidosis Mucopolysaccharidosis IV - epidemiology Mucopolysaccharidosis IV - genetics Mucopolysaccharidosis IV - pathology Mutation Mutation, Missense Patients Young Adult |
| title | Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region |
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