Genetic spectrum of MPZ variants was confirmed in this study.

ACSL5 biallelic loss-of-function variants lead to severe failure to thrive, but treatable with dietary restriction of long-chain triglycerides.

Chronic Intestinal Pseudo-Obstruction (CIPO):

• wide phenotypic spectrum of severity
• Different ACTG2 variants
• AD or AR inheritance
• Transmitted or de novo

The multiple morphological abnormalities of the sperm flagella (MMAF) is one of the most severe types of teratozoospermia. In this study, we conducted whole-exome sequencing on 55 MMAF patients to identify the genetic etiology. Biallelic mutations of CFAP58 were identified from two patients. The variants are rare and disease causing, and CFAP58 was absent in the patients' sperm. Moreover, the TEM results showed the absence of central pairs and disruption of the DMTs. Intracytoplasmic sperm injection (ICSI) was carried out for couple of F037/II:1, his wife became pregnant and gave birth to a baby. This study further demonstrates that CFAP58 is a pathogenic gene of MMAF.

IQSEC2 mutations are associated to a neurodevelopment disorder (OMIM #300522) which shares many characteristics with Rett syndrome. With the aim of establishing a genotype-phenotype correlation, we collected molecular and clinical data of 16 patients harbouring IQSEC2 point mutations (15 previously unreported) and of 5 novel patients carrying CNVs encompassing IQSEC2, some of them being familial cases. Our data support the idea that position, type of variant and gender are crucial to determine the phenotype associated to IQSEC2 mutations.