A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2.
Ophthalmic Genet
; 41(4): 377-380, 2020 08.
Article
en En
| MEDLINE
| ID: mdl-32498638
ABSTRACT
BACKGROUND:
Adams-Oliver syndrome (AOS) is a rare, inherited multi-systemic malformation syndrome characterized by a combination of aplasia cutis congenita and transverse terminal limb defects along with variable involvement of the central nervous system, eyes, and cardiovascular system. AOS can be inherited as both autosomal-dominant and recessive traits. Pathogenic variants in the DOCK6, ARHGAP31, EOGT, RBPJ, DLL4, and NOTCH1 genes have been associated with AOS.PURPOSE:
To report a novel homozygous variant in the DOCK6 gene associated with Adams-Oliver syndrome type 2. MATERIALS ANDMETHODS:
Case report.RESULTS:
We report a case of a 4-month-old male who presented with microcephaly, global developmental delay, truncal hypotonia, and limb reduction defects. Ophthalmic examination revealed bilateral nystagmus and retinal detachment with mild cataractous changes in addition to retrolental plaque in the left eye. Next generation sequencing analysis identified a novel homozygous frameshift likely pathogenic variant (c.1269_1285dup (p.Arg429Glnfs*32)) in the DOCK6 gene. The constellation of the clinical findings and the genetic mutation were consistent with a diagnosis of AOS type 2.CONCLUSION:
The discovery of this new likely pathogenic variant enriches the genotypic spectrum of DOCK6 gene and contributes to genetic diagnosis and counseling of families with AOS. Neurologic and ocular findings appear to be consistent with AOS type 2 for which multidisciplinary clinical evaluation is crucial.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Dermatosis del Cuero Cabelludo
/
Displasia Ectodérmica
/
Deformidades Congénitas de las Extremidades
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Factores de Intercambio de Guanina Nucleótido
/
Mutación
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Humans
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Infant
/
Male
Idioma:
En
Revista:
Ophthalmic Genet
Asunto de la revista:
GENETICA MEDICA
/
OFTALMOLOGIA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Arabia Saudita