Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population.

Consanguinity, prevalent in certain populations due to cultural and social factors, significantly increases the risk of genetic autosomal recessive (AR) disorders. In Lebanon, consanguineous marriages constitute 35.5% of unions, with first cousin marriages being the most common.

Geroderma Osteodysplastica With Concomitant Transposition of Great Vessels: A Case Report and Literature Review.

Geroderma Osteodysplastica (GO) is a rare autosomal recessive connective tissue disease characterized by wrinkled skin and osteoporosis, two distinct aging-related features. A loss of function mutation in results in the disease. Immediately after birth, a cyanotic female neonate was found to have transposition of great vessels (TGV) that was corrected with an uneventful surgical recovery.

Endophilin A2 Deficiency Impairs Antibody Production in Humans.

Endophilin A2, the sole endophilin A family member expressed in hematopoietic cells, regulates various aspects of membrane dynamics, including autophagy and endocytosis. Recent studies in rodents highlight the essential role of endophilin A2 in modulating immune responses. Here we report a homozygous frameshift variant in the SH3GL1 gene (NM_003025.

Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel mutation.

Background: Neurofibromatosis type-2-related schwannomatosis (-SWN, formerly neurofibromatosis type 2) is a rare genetic disorder marked by the development of multiple nervous system tumors.

Case Presentation: We report a 21-month-old female patient who presented for left eye deviation. Upon examination, intermittent exotropia and a fundus mass were detected.

POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments.

Hearing impairment (HI) is a significant health concern globally, influenced by genetic and environmental factors. We had identified a homozygous pathogenic variant in POLD3 in a Lebanese patient with an autosomal congenital recessive syndromic hearing loss (MIM#620869). This variant was found at heterozygous state in the parents, who developed progressive hearing impairment around age 40.