Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinct facial appearance, cardiac defects, ectodermal anomalies and developmental delay. Recently, we reported a 19-month-old girl with phenotypic manifestations consistent with the CFC syndrome who had an interstitial deletion of the long arm of chromosome 12, del(12)(q21.2q22), implicating a possible locus for CFC syndrome. Here, we report an additional patient with a cytogenetically identical interstitial deletion: 47,XYY,del(12)(q21.2q22). To further characterize this deletion we used microarray-based comparative genomic hybridization (array CGH). Array CGH confirmed both the deletion and the second Y chromosome. The deletion on chromosome 12q spanned at least 14 Mb as indicated by the positions on the genome sequence of the 4 BAC clones included in the deletion. While the proband did not have the classic features of CFC, he had some dysmorphic craniofacial characteristics, ectodermal anomalies and moderate developmental delay which were suggestive of CFC syndrome; however, this patient did not have classical CFC. The phenotypic differences between the two del(12)(q21.2q22) patients may be due to variability in the expression of the syndrome, or this deletion may present as a syndrome with overlapping features. Alternatively, the phenotypic differences may result from discordance at the molecular level, which may yield a critical minimal region of deletion for CFC. The region 12q21.2  q22 remains a possible candidate region for CFC syndrome. Additional characterization of these and other CFC patients may confirm and further refine this candidate region. © 2002 Wiley-Liss, Inc.

Additional patient with del(12)(q21.2q22): Further evidence for a candidate region for cardio-facio-cutaneous syndrome?

Protein tyrosine phosphatases (PTPs) have long been thought to play a role in tumor suppression due to their ability to antagonize the growth promoting protein tyrosine kinases. Recently, a candidate tumor suppressor from 10q23, termed P-TEN, was isolated, and sequence ho- mology was demonstrated with members of the PTP family, as well as the cytoskeletal protein tensin. Here we show that recombinant P-TEN dephosphorylated protein and peptide substrates phosphorylated on serine, threonine, and tyrosine residues, indicating that P-TEN is a dual-specificity phospha- tase. In addition, P-TEN exhibited a high degree of substrate specificity, showing selectivity for extremely acidic substrates in vitro. Furthermore, we demonstrate that mutations in P-TEN, identified from primary tumors, tumor cells lines, and a patient with Bannayan-Zonana syndrome, resulted in the ablation of phosphatase activity, demonstrating that enzy- matic activity of P-TEN is necessary for its ability to function as a tumor suppressor.

http://www.pnas.org/content/94/17/9052.full.pdf

P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase (cancerytyrosine phosphorylationysignal transductionyprotein tyrosine phosphatase)

No wonder you activities are, reading will be always needed. It is not only to fulfil the duties that you need to finish in deadline time. Reading will encourage your mind and thoughts. Of course, reading will greatly develop your experiences about everything. Reading hereditary retinal and choroidal diseases is also a way as one of the collective books that gives many advantages. The advantages are not only for you, but for the other peoples with those meaningful benefits.

Hereditary Retinal and Choroidal Diseases

The DFNA25 locus for autosomal dominant nonsyndromic hereditary hearing loss has been mapped to 12q21-q24 by linkage analysis. A de novo deletion in a six-year-old boy with congenital hearing loss as well as mental and motor retardation now provides independent confirmation of this genetic localization and narrows the critical interval to 13 cM in the 12q22-q24.1 region. Mapping of the deletion was performed using fluorescence in situ hybridization (FISH) analysis with region-specific yeast artificial chromosome (YAC) clones. Ten YACs 929_e_4, 959_c_3, 746_h_7, 817_h_10, 886_a_6, 916_h_9, 969_c_12, 747_e_2, 812_h_12, and 959_f_8 were absent from one chromosome 12 from the patient. Molecular analyses of eight polymorphic markers helped to narrow down the breakpoints and demonstrated that the derivative chromosome 12 is of paternal origin. Several known genes including ATP2A2, UBE3B, and VR-OAC that map in the 12q22-q24.1 region are included in the deletion. These results provide evidence that haploinsufficiency for a gene or genes in 12q22-q24.1 is associated with autosomal dominant deafness. © 2003 Wiley-Liss, Inc.

Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: Confirmation and refinement of the DFNA25 locus

Interstitial deletions of chromosome 12q are rare, with only 11 reported cases in the literature. We recently described two cases with cytogenetically identical interstitial deletions of the long arm of chromosome 12. Here, we report on a third patient, a 26-month-old male with a cytogenetically-identical interstitial deletion: 46,XY,del(12)(q21.2q22). Phenotypic features of this male proband included craniofacial and ectodermal anomalies, genitourinary anomalies, minor cardiac abnormalities, mild ventriculomegaly on brain MRI, hyperopia, and developmental delay. To further define the extent of the chromosomal aberration, microarray-based comparative genomic hybridization (array CGH) analysis was performed and the array data was compared to one of our previously reported cases. Although cytogenetic analysis of the two patients was concordant, molecular analysis by array CGH revealed that the patients had discordant distal breakpoints. The determination of molecular breakpoints and phenotypic analyses in these two patients, in conjunction with previously reported cases, leads us to propose a 12q deletion phenotype and a possible genetic locus for hyperkeratosis pilaris/ulerythema ophryogenes.

/pdf/interstitial-deletion-of-chromosome-12q-genotype-phenotype-45ttymdh3h.pdf

Interstitial deletion of chromosome 12q: genotype-phenotype correlation of two patients utilizing array comparative genomic hybridization.

Editor—Reports of congenital abnormalities resulting from deletions on the long arm of chromosome 12 are rare.1-4 A number of genes have been mapped to 12q, which include a gene for Noonan syndrome (NS) in some families5and the gene for insulin-like growth factor I (IGF-I).6The patient presented here was referred for assessment regarding the diagnosis of NS in view of her short stature, dysmorphic facies, and developmental delay and was found to have a de novo interstitial deletion on chromosome 12q. Despite some of the similar clinical findings to NS in this patient, molecular analysis showed that the deletion mapped approximately 17 cM centromeric to the critical region for NS. To our knowledge, there have been no similar cases of interstitial deletion reported on chromosome 12q.

The patient, a 15 year old girl was the first born child to a 23 year old mother and an unrelated 21 year old father. Her younger brother, aged 11 years, was fit and well. The family history was unremarkable. The pregnancy was normal. She was born at term as an emergency caesarean section for fetal distress. Her birth weight was 2860 g. She was admitted to the special care baby unit for 24 hours for observation. The neonatal period was complicated by pyloric stenosis for which surgery was carried out on day 16. During the postoperative period, she developed severe candidiasis and lactose intolerance. At the age of 1 year she was challenged with milk and seemed to have recovered from the intolerance. Developmentally she was able to sit unsupported at the age of 8 months and walked independently at the age of 2 years. Her speech was delayed and she was unable to say two words together until the …

https://jmg.bmj.com/content/jmedgenet/36/12/940.full.pdf

Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12

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Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12