Renpenning syndrome in an Indian patient.
Am J Med Genet A
; 182(2): 293-295, 2020 02.
Article
em En
| MEDLINE
| ID: mdl-31840915
ABSTRACT
Renpenning syndrome is one of the well-characterized causes of X-linked intellectual disability and is associated with microcephaly and various visceral malformations. Face is considered characteristic but the dysmorphism is subtle. Here we report an Indian adult with a very lean habitus, progressive atrophy of the upper back muscles, microcephaly, loss of cervical lordosis, and upper thoracic scoliosis. Using whole-exome sequencing, a hemizygous deletion was identified in PQBP1 that leads to a frameshift and premature termination of translation. The loss of normal curvatures of cervical and upper thoracic spine due to muscular atrophy is a characteristic feature, though it may be age dependent.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Paralisia Cerebral
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Deficiência Intelectual Ligada ao Cromossomo X
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Doenças Genéticas Ligadas ao Cromossomo X
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Proteínas de Ligação a DNA
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Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article