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Biomedical subjects

M Lubinsky

Publications and source records attributed to M Lubinsky.

At least 19 recordsLinked to original sources
PubMed2001

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.

X-linked adrenal hypoplasia congenita (AHC) is caused by mutations in the NR0B1 gene. This gene encodes an orphan member of the nuclear receptor superfamily, DAX1. Ongoing efforts in our laboratory have identified nine novel NR0B1 mutations in X-linked AHC patients (Y81X, 343delG, 457delT, 629delG, L295P, 926-927delTG, 1130delA, 1141-1155del15, and E428X). Two additional families segregate previously identified NR0B1 mutations (501delA and R425T). Sequence analysis of the mitochondrial D-loop indicates that the 501delA family is unrelated through matrilineal descent to our previously analyzed 501delA family.

Adrenal Insufficiency↗
PubMed1989

Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.

The study of contiguous gene deletion syndromes by using reverse genetic techniques provides a powerful tool for precisely defining the map location of the genes involved. We have made use of individuals with overlapping deletions producing choroideremia as part of a complex phenotype, to define the boundaries on the X chromosome for this gene, as well as for X-linked mixed deafness with perilymphatic gusher (DFN3). Two patients with deletions and choroideremia are affected by an X-linked mixed conductive/sensorineural deafness; one patient, XL-62, was confirmed at surgery to have DFN3, while the other patient, XL-45, is suspected clinically to have the same disorder. A third choroideremia deletion patient, MBU, has normal hearing. Patient XL-62 has a cytogenetically detectable deletion that was measured to be 7.7% of the X chromosome by dual laser flow cytometry; the other patient, XL-45, has a cytogenetically undetectable deletion that measures only 3.3% of the X chromosome. We have produced a physical map of the X-chromosome region containing choroideremia and DFN3 by using routine Southern blotting, chromosome walking and jumping techniques, and long-range restriction mapping to generate and link anonymous DNA sequences in this region. DXS232 and DXS233 are located within 450 kb of each other on the same SfiI and MluI fragments and share partial SalI fragments of 750 and greater than 1,000 kb but are separated by at least one SalI site. In addition, DXS232, which lies outside the MBU deletion, detects the proximal breakpoint of this deletion. We have isolated two new anonymous DNA sequences by chromosome jumping from DXS233; one of these detects a new SfiI fragment distal to DXS233 in the direction of the choroideremia gene, while the other jump clone is proximal to DXS233 and detects a new polymorphism. These data refine the map around the loci for choroideremia and for mixed deafness with stapes fixation and will provide points from which to isolate candidate gene sequences for these disorders.

Adolescent↗
PubMed1987

Familial Prader-Willi syndrome with apparently normal chromosomes.

We report on 4 sibs (2F, 2M) with Prader-Willi syndrome (PWS). Diagnosis was made clinically on the basis of history, behavior, and physical findings in 3 of the sibs. The other child had died at age 10 months with a history and clinical findings typical of first phase of PWS. Results of chromosome studies on the parents and surviving sibs were normal. The implications of this unusual familial occurrence for our understanding of PWS are discussed.

Adult↗
PubMed1987

Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome--a commentary on reported cases.

The development of chronic renal failure because of parenchymatous renal disease in patients in 46,XY gonadal dysgenesis was noted initially by Drash et al [J Pediatr 76:585-593, 1970]. However, we think that some of the cases reported as examples of the Drash syndrome are a different disorder. In this paper, we review six previously reported patients with streak gonads, pseudohermaphroditism, and renal failure. In several of these patients the diagnosis was established only after a successful kidney transplantation during evaluation for primary amenorrhea. Gonadoblastoma arising from the streak gonad was noted in five of the six patients. "Frasier" syndrome would be a suitable term to denote this association after Frasier et al, who described two patients in 1964. We recommend evaluation of the gonads in prepubertal girls with end-stage renal disease at risk for this syndrome.

Adult↗
PubMed1986

VATER and other associations: historical perspectives and modern interpretations.

Associations are statistically related groups of anomalies, and the VATER association probably is the best known example. The concept is widely used, but there are difficulties with both definition and delineation. An historical review is used to define implicit commonalities of associations. These commonalities are then used to develop a testable model which defines associations as derivatives of nonspecific teratologic events acting on developmental fields. Findings depend on the timing, location, and magnitude of these events, and reflect developmental constraints. This clarifies the nature of associations and provides guidelines for their study and use.

Abnormalities, Multiple↗
PubMed1985

Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism.

We describe a brother and sister with amelogenesis imperfecta, nephrocalcinosis and impaired renal concentrating ability. This is the second sibship reported, further substantiating autosomal recessive inheritance of this condition. There is lack of enamel, lifelong nocturnal enuresis, progressive punctate nephrocalcinosis, and decreased calcium and phosphate excretion over 24 hours and after an acute load. Increased serum osteocalcin and decreased urine delta-carboxyglutamic acid suggest involvement of vitamin K-dependent calcium binding proteins, although this may represent a secondary finding. No other evidence of abnormal calcium metabolism was found. Renal function is stable in the early teens, but the previously reported patients went on to renal failure.

1-Carboxyglutamic Acid↗
PubMed1984

Further delineation of the 10p deletion syndrome.

Nine children with a partial deletion of the short arm of the number 10 chromosome have been described in the medical literature. In two new cases of 10p-, the children have several features in common with those previously reported; these features include down-slanting short palpebral fissures, ear anomalies, anteverted nostrils, a short neck, and psychomotor delay. At this stage in the delineation of this condition, the phenotypic expression is variable. However, the craniofacial features of the two children with recently reported 10p- and others display a constellation of individually nonspecific but consistent findings that together form a recognizable gestalt. Pediatric practitioners should consider performing karyotypes in children with developmental disabilities accompanied by multiple structural defects and/or multiple physical variations not part of the family background.

Abnormalities, Multiple↗
PubMed1983

Familial amniotic bands.

Amniotic bands can cause a wide variety of deformities and mutilations. They are generally considered sporadic. Two families are presented with apparent familial amniotic band anomalies. Additional cases in the literature are reviewed. These aggregations may be coincidental, and recurrence risk is apparently low. However, amniotic band malformations may be an indication for caution in the use of amniocentesis in future pregnancies.

Adult↗
PubMed1983

Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome.

We report a brother and sister who died neonatally with a distinctive but variable multiple congenital anomaly (MCA) syndrome. Anomalies in both included similar facial changes, cleft palate, distal digital hypoplasia, lung hypoplasia, and urogenital abnormalities. They were discordant for cleft lip, diaphragmatic hernia, and Dandy-Walker anomaly. These sibs resemble three recently reported stillborn children and support the existence of a "new" autosomal recessive MCA syndrome with variable expressivity.

Abnormalities, Multiple↗
PubMed1983

Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.

Two unrelated infants with a new disorder characterized biochemically by elevated levels of free sialic acid in urine, serum, and cell lysates have exhibited severe mental and physical impairments since the early weeks of life. Three other biochemically diagnosed cases and two possible cases from the earlier literature are reviewed to delineate this condition. Clinical features including sparse, white hair, coarse facies, hepatosplenomegaly, profound inactivity, diarrhea, and anemia permit early diagnosis of this neurovisceral storage disease. Osseous stippling may be present and clear vacuoles may be demonstrated in lymphocytes and cultured fibroblasts. The course is one of relentless deterioration with death in early childhood. Specific diagnosis depends on demonstration of elevated free sialic acid in urine and cell lysates.

Adult↗