Alopécie, dysplasie auriculaire et déficit intellectuel en lien avec une délétion 21q terminale

Lafabregue, E.; Chaby, G.; Vabres, P.; Carmi, E

doi:10.1016/j.annder.2019.01.023

Cited by 2 publications

(1 citation statement)

References 15 publications

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“…Later, Lafabregue and his coworkers reported a French patient with alopecia, mental retardation, and deformed ears. The genetic diagnosis in this patient determined the deletion of the 3.6Mb region on 21q22.3 and suggests a condition of partial 21q monosomy (Lafabregue et al., 2019). They speculated that the APMR phenotypes may be due to the presence of the LSS gene within the deleted region on chromosome 21q22.3.…”

Section: Introductionmentioning

confidence: 91%

Alopecia‐mental retardation syndrome: Molecular genetics of a rare neuro‐dermal disorder

Muzammal

Ahmad

Ali

et al. 2021

Annals of Human Genetics

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Alopecia‐mental retardation syndrome (APMR) is a rare autosomal recessive neuro‐dermal disorder. It is characterized by heterogeneous phenotypic features, that is, absence of hair on the scalp, eyelashes, and eyebrows and mild to severe intellectual disability. So far, approximately 14 families (i.e., Iranian, Pakistani, and Swiss) with APMR have been reported in the scientific literature. Its precise prevalence is still unknown, but according to a predictive estimate, it prevails with the ratio of 1 in 1,000,000 persons worldwide. Until now, only four loci (two characterized and two uncharacterized) have been reported to be involved in APMR. The pathogenic variants in alpha‐2‐HS‐glycoprotein [AHSG; APMR1 (MIM#203650)] and lanosterol synthase [LSS; APMR4 (MIM#618840)] are the characterized genetic factors associated with APMR. Among them, AHSG was reported in a consanguineous Iranian family and LSS gene in a Swiss origin family, while the remaining two uncharacterized loci, that is, APMR2 and APMR3, are reported in the Pakistani population. The current mini‐report discusses the molecular genetics and mutational spectrum of APMR syndrome, its differential diagnosis from related disorders, and prediction of plausible candidate genes in two uncharacterized loci.

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Section: Introductionmentioning

confidence: 91%