Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.

Heterozygous pathogenic variants in are associated with oligodontia-colorectal cancer syndrome (ODCRCS), a disorder characterized by oligodontia, colorectal cancer, and in some cases, sparse hair and eyebrows. We have identified four individuals with one of two , heterozygous variants (NM_004655.4:c.

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Optimal lysosome function requires maintenance of an acidic pH maintained by proton pumps in combination with a counterion transporter such as the Cl/H exchanger, CLCN7 (ClC-7), encoded by CLCN7. The role of ClC-7 in maintaining lysosomal pH has been controversial. In this paper, we performed clinical and genetic evaluations of two children of different ethnicities.

The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening.

An important part of the coordinated care by experienced health care teams for all Pompe disease patients, whether diagnosed through newborn screening (NBS), clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counseling helps families better understand medical recommendations and options presented by the patient's health care team so they can make informed decisions. In addition to providing important information about the inheritance and genetic risks, genetic counseling also provides information about Pompe disease and available treatments and resources and should be offered to families with an affected child and all adults diagnosed with Pompe disease.

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.

After a Pompe disease diagnosis is confirmed in infants identified through newborn screening (NBS), when and if to start treatment with enzyme replacement therapy (ERT) with alglucosidase alfa must be determined. In classic infantile-onset Pompe disease, ERT should start as soon as possible. Once started, regular, routine follow-up is necessary to monitor for treatment effects, disease progression, and adverse effects.

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

Mesomelia-synostoses syndrome (MSS) or mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type is a rare autosomal-dominant disorder characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations. So far, five patients in four unrelated families have been reported worldwide with MMS. By using whole-genome oligonucleotide array CGH, we have identified an interstitial deletion at 8q13 in all patients.

Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.

Unlabelled: Newborn screening for galactosemia has shown a high prevalence of partial galactose uridyl transferase deficiencies such as Duarte (DG) galactosemia.

Study Objective: To determine whether (a) there is any clinical impact of DG galactosemia on development (b) there is a relationship between outcome and biochemical parameters in patients who receive no treatment.

Study Population: Twenty-eight children with DG galactosemia.

Prenatal detection of fetal trisomy 18 through abnormal sonographic features.

Objective: To describe the prenatal detection of fetal trisomy 18 through abnormal sonographic features and to determine the sensitivity of sonographically detecting fetuses with trisomy 18.

Methods: All genetic and cytogenetic records of fetuses with trisomy 18 were reviewed retrospectively (1992-2002). From these, singleton fetuses who had prenatal sonography at our unit were identified.

Prenatal detection of fetal aneuploidy by sonographic ear length.

Objective: To determine the usefulness of a fetal ear length nomogram in the prenatal detection of fetal aneuploidy and to determine whether ear smallness in cases of aneuploidy is a primary or secondary event.

Methods: Ear lengths of 447 singleton fetuses (October 1996 to October 1997)were prospectively evaluated between 14 and 41 weeks to establish a nomogram created by modeling the mean and SD separately. Records of aneuploid fetuses were retrospectively reviewed, and their ear lengths were plotted against the nomogram to determine detection rates, with ear length in or below the 10th and 50th percentiles for a given gestational age and biparietal diameter used as abnormal cutoffs.