Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12.

Transgender identity genetic research: Attitudes, opinions & beliefs among members of the transgender and gender diverse communities.

There is growing interest in investigating genetic explanations for transgender identity. In the spirit of a Community-Engaged Research Framework, which highlights the importance of involving community members who would be impacted by research throughout the entire research process, it is important for researchers to understand transgender and gender expansive individuals' views and concerns regarding the potential harms and benefits of transgender identity genetic research (TIGR). To evaluate the thoughts, opinions, and beliefs in the transgender and gender diverse communities toward TIGR We conducted an online survey study, asking 409 transgender and gender diverse individuals about their views regarding potential benefits and risks of TIGR.

Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.

Background And Objective: Autosomal recessive genetic disorders pose significant health challenges in regions where consanguineous marriages are prevalent. The utilization of exome sequencing as a frequently employed methodology has enabled a clear delineation of diagnostic efficacy and mode of inheritance within multiplex consanguineous families. However, these aspects remain less elucidated within simplex families.

Identification of rare genetic variants in the PCDH genetic family in a cohort of transgender women.

Objective: To study the identification of rare genetic variants in the PCDH genetic family in a cohort of transgender women (TGW) and their potential role in gender identity.

Design: Exome sequencing and functional ontology analysis.

Setting: Outpatient gender health and reproductive endocrinology clinics.