A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome.
Eur J Med Genet
; 64(8): 104261, 2021 Aug.
Article
em En
| MEDLINE
| ID: mdl-34119699
ABSTRACT
Van Esch-O'Driscoll syndrome (VEODS) is a rare cause of syndromic X-linked intellectual disability characterised by short stature, microcephaly, variable degree of intellectual disability, and hypogonadotropic hypogonadism. To date, heterozygous hypomorphic variants in the gene encoding the DNA Polymerase α subunit, POLA1, have been observed in nine patients from five unrelated families with VEODS. We report a three-year-old child with VEODS having borderline intellectual disability due to a novel splice site variant causing exon 6 skipping and reduced POLA1 expression.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Estenose Pilórica Hipertrófica
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DNA Polimerase I
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Hipogonadismo
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Deficiência Intelectual
Limite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Eur J Med Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Índia