Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities syndrome (DEGCAGS, MIM #619488) is caused by biallelic, loss-of-function (LoF) ZNF699 variants, and is characterized by variable neurodevelopmental disability, discordant organ anomalies among full siblings and infant mortality. ZNF699 encodes a KRAB zinc finger protein of unknown function. We aimed to investigate the genotype-phenotype spectrum of DEGCAGS and the possibility of a diagnostic DNA methylation episignature, to facilitate the diagnosis of a highly variable condition lacking pathognomonic clinical findings.

Molecular assessment of some cardiovascular genetic risk factors among Iraqi patients with ischemic heart diseases.

Objective: The underlying molecular basis of ischemic heart diseases (IHDs) has not yet been studied among Iraqi people. This study determined the frequency and types of some cardiovascular genetic risk factors among Iraqi patients with IHDs.

Methods: This is a cross-sectional study recruiting 56 patients with acute IHD during a 2-month period excluding patients >50 years and patients with documented hyperlipidemia.

Primary hypogonadism, partial alopecia, and Müllerian hypoplasia: report of a fifth family and review.

Primary hypogonadism combined with Müllerian hypoplasia and partial alopecia are common features of this syndrome, which was reported only in four earlier families from areas where consanguineous marriage is prevalent. An autosomal recessive pattern of inheritance was suggested earlier and is supported by this report.

Molecular Analysis of Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia.

Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing gene mutations was so far not reported in Iraq.