Abdullah Abualait's research works

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Novel genetic inheritance with a rare presentation of Adams–Oliver syndrome

January 2019

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1 Citation

Journal of Dermatology & Dermatologic Surgery

[...]

Adams–Oliver syndrome (AOS) is a rare heterogeneous inherited disorder, characterized by the combination of the congenital scalp and terminal transverse limb defects. Various expressions of AOS have been reported. Most cases of the syndrome appear to follow autosomal dominant inheritance, but autosomal recessive inheritance has also been reported. However, genetic inheritance involving both autosomal recessive and dominant genes within the same patient was not previously reported. We report a newborn case of AOS with novel genetic profile and a rare clinical presentation.

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... AR AOS type 2 (OMIM 614219) is caused by homozygous or compound heterozygous mutations in the DOCK6 gene (OMIM 614194) and until now, we know of approximately 30 reported patients (Shaheen et al., 2011(Shaheen et al., , 2013Lehman et al., 2014;Sukalo et al., 2015;Jones et al., 2017;Pisciotta et al., 2018;Abualait et al., 2019;Dudoignon et al., 2020;Wang et al., 2019;Alzahem et al., 2020;Naravane et al., 2020;Tao et al., 2021;Jin et al., 2022). The distinctive phenotype in these patients includes a high frequency of central nervous system abnormalities such as microcephaly, structural brain abnormalities, intellectual disability, poor neurological outcome, as well as ocular abnormalities (Sukalo et al., 2015). ...
Reference:
Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome

Novel genetic inheritance with a rare presentation of Adams–Oliver syndrome

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January 2019

Journal of Dermatology & Dermatologic Surgery

[...]

Abdullah Abualait's scientific contributions

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