What is gene review?

GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.

What is Stickler syndrome symptoms?

Children who have Stickler syndrome often have distinctive facial features — prominent eyes, a small nose with a scooped-out facial appearance and a receding chin. They are often born with an opening in the roof of the mouth (cleft palate).

How long is the average lifespan of a person with Noonan syndrome?

It is one of the most common non-chromosomal disorders in children with congenital heart disease, with an estimated prevalence worldwide of 1 in 1000-2500. The average age at diagnosis is nine years, and life expectancy is likely normal if serious cardiac defects are absent.

How long do people with Leigh syndrome live?

Leigh syndrome is a rare inherited genetic disorder that affects the central nervous system. The prognosis of Leigh disorder is very poor, and patients with it mostly live up to six to seven years, but some may live until mid-teenage.

What is the SALL4 gene?

The SALL4 gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs during embryonic development.

Why can’t SALL4 variants be detected in DNA extracted from leukocytes?

If a SALL4 pathogenic variant cannot be detected in DNA extracted from the leukocytes of either parent, the two possible explanations are germline mosaicism in a parent or de novo mutation in the proband. Although no instances of germline mosaicism have been reported to date, it remains a possibility. Offspring of a proband.

How does the SALL4 pathogenic variant affect family members?

If a parent is affected or has a SALL4 pathogenic variant, his or her family members are at risk. Once the pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis are possible.

Is SALL4 positive or negative in germ cell tumors?

SALL4 is expressed in most germ cell tumors (except some trophoblastic tumors) and nearly 100% sensitive for gonadal and extragonadal yolk sac tumors. The other answers are typically negative for SALL4, which can be used to differentiate from histologically similar diagnoses which are SALL4 positive.