Case Report of Infant With Features of Beckwith-Wiedemann Syndrome Diagnosed With Genome-wide Uniparental Disomy.

Uniparental disomy (UPD), where two copies of genetic material are from one parent, and none from the other, is a familiar cause of imprinting. We present a premature infant with organomegaly and congenital hyperinsulinism found to have complete UPD of paternal origin as determined by Mendelian inheritance error analysis.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Glutamatergic neurotransmission governs excitatory signaling in the mammalian brain, and abnormalities of glutamate signaling have been shown to contribute to both epilepsy and hyperkinetic movement disorders. The etiology of many severe childhood movement disorders and epilepsies remains uncharacterized. We describe a neurological disorder with epilepsy and prominent choreoathetosis caused by biallelic pathogenic variants in FRRS1L, which encodes an AMPA receptor outer-core protein.

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

Background: The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes.

Methods: We report a Saudi family with a neurodegenerative course dominated by progressive chorea and dementia in whom we performed homozygosity mapping and whole exome sequencing.

Results: We identified a homozygous missense mutation in GM2A within a prominent block of homozygosity.

A Hutterite condition that mimics Bowen-Conradi syndrome.

Bowen-Conradi syndrome (BCS) is a common autosomal recessive condition in the Hutterite population. In 2012, when BCS clinical testing was not available, we reported two babies believed to have BCS based upon their clinical features. Diagnostic molecular testing is now available for this condition.

Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites.

Bowen-Conradi syndrome (BCS) is a common lethal condition amongst infants of Hutterite ancestry. We describe a newborn infant with features of BCS, which may mimic trisomy 18 and other conditions such as cerebro-oculo-facial syndrome (COFS) and CHARGE syndrome. We describe the constellation of clinical findings in BCS.

Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.

Congenital Nasal Pyriform Aperture Stenosis (CNPAS) is a rare congenital malformation caused by overgrowth of the maxillary bone. We report on two patients, brothers born 3 and 1½ years apart, both presented at birth with radiographically diagnosed CNPAS. Both siblings also were born with ocular albinism, which is known to have X-linked inheritance.

A brief history of autism, the autism/vaccine hypothesis and a review of the genetic basis of autism spectrum disorders.

Autism spectrum disorders (ASD) represent a common spectrum of developmental disabilities, sharing deficits in social interactions, communication and restricted interests or repetitive behaviors with difficult transitions. In this article, we review the history of the identification and classification of autism and the origin of the now widely-debunked autism/vaccine hypothesis. The differences between syndromal (complex) and non-syndromal (essential) autism are described and illustrated with case descriptions where appropriate.

Bowen-Conradi: a common Hutterite condition that mimics trisomy 18.

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive condition having significant clinical overlap with trisomy 18. Though rare in the general population, it is quite common in the Hutterites of the United States and Canada. The carrier frequency in the Hutterite population is estimated to be one in 10, making BCS one of the most commonly inherited genetic diseases in any human group studied to date.

Advances in whole-genome genetic testing: from chromosomes to microarrays.

Whole-genome genetic diagnostics has changed the clinical landscape of pediatric and adolescent medicine. In this article, we review the history of clinical cytogenetics as the field has progressed from studying chromosomes prepared from cells squashed between 2 slides to the high-resolution, whole-genome technology in use today, which has allowed for the identification of numerous previously unrecognized microdeletion and microduplication syndromes. Types of arrays and the data they collect are addressed, as are the types of results that array comparative genomic hybridization studies may generate.

Clinical course of a 20-month-old child diagnosed prenatally with mosaic ring chromosome 18 and monosomy 18.

We report on a 20-month-old male, diagnosed prenatally with de novo mosaic ring chromosome 18 and low level monosomy 18, who also exhibited an inherited and apparently balanced translocation between chromosomes 3 and 6. We believe this to be the first reported case of prenatally diagnosed mosaic ring chromosome 18 and monosomy 18 in which the child was carried to term. Ring chromosomes are associated with an abnormal phenotype that is dependent on the amount of material that is deleted from the p and q arms.

Gene expression patterns underlying proximal-distal skeletal segmentation in late-stage zebrafish, Danio rerio.

Timing and pattern of expression of ten candidate segmentation genes or gene pairs were reviewed or examined in developing median fins of late-stage zebrafish, Danio rerio. We found a general correspondence in timing and pattern of expression between zebrafish fin radial segmentation and tetrapod joint development, suggesting that molecular mechanisms underlying radial segmentation have been conserved over 400 million years of evolution. Gene co-expression during segmentation (5.

Expression of bmp2a and bmp2b in late-stage zebrafish median fin development.

Zebrafish bmp2a and bmp2b mRNA expression in the developing median fins (caudal, anal, and dorsal) of late-stage larvae (>5 days post-fertilization) was analyzed by reverse transcriptase-PCR (RT-PCR) and in situ hybridization. bmp2a is expressed in developing fin rays, while bmp2b is expressed in developing fin rays, hypertrophic chondrocytes, and in the zone of segmentation (ZS) in developing anal and dorsal fin radials. This latter pattern of bmp2b expression in the ZS mirrors tetrapod bmp2 expression in developing joints.

Evolution of median fin modules in the axial skeleton of fishes.

Detailed examples of how hierarchical assemblages of modules change over time are few. We found broadly conserved phylogenetic patterns in the directions of development within the median fins of fishes. From these, we identify four modules involved in their positioning and patterning.