Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism

2010 ◽  
Vol 152A (7) ◽  
pp. 1822-1824 ◽  
Author(s):  
Jessica M. Comstock ◽  
Angelica R. Putnam ◽  
Nikhil Sangle ◽  
Amy Lowichik ◽  
Nancy C. Rose ◽  
...  
Keyword(s):  
Germline Mosaicism ◽  
Achondrogenesis Type

Achondrogenesis type 2 diagnosed by transvaginal ultrasound at 12 weeks' gestation

1993 ◽  
Vol 13 (6) ◽  
pp. 523-528 ◽  
Author(s):  
P. W. Soothill ◽  
C. Vuthiwong ◽  
H. Rees
Keyword(s):  
Transvaginal Ultrasound ◽  
Achondrogenesis Type

scholarly journals Achondrogenesis Type 2 (Langer-Saldino)

2013 ◽  
Vol 7 ◽  
pp. 60-62
Author(s):  
Ali kaya ◽  
Ahmet Sami Guven ◽  
Mevlut Demir ◽  
Hatice Gunes ◽  
Fatma Duksal ◽  
...  
Keyword(s):  
Achondrogenesis Type

Type 2 Collagen Group

2012 ◽  
pp. 127-153 ◽  
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Spondyloepiphyseal Dysplasia ◽  
Collagen Group ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Epiphyseal Dysplasia ◽  
Achondrogenesis Type ◽  
Kniest Dysplasia

Chapter 24 covers disorders of the Type 2 collegen group (achondrogenesis type 2 (MIM100610), hypochondrogenesis (MIM 200610), spondyloepiphyseal dysplasia Torrance type (MIM 151210), spondyloepiphyseal dysplasia congenita (MIM 183900), Kniest dysplasia (MIM 256550), spondyloperipheral dysplasia (MIM 271700), spondyloepiphyseal dysplasia with metatarsal shortening (MIM 609162), autosomal dominant spondyloarthropathy (MIM 604864), vitreoretinopathy with phalangeal epiphyseal dysplasia (MIM 120140.0037), Stickler dysplasia (MIM 108300, 604841)), including major clinical findings, radiographic features, and differential diagnoses.

Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism

2004 ◽  
Vol 126A (3) ◽  
pp. 308-312 ◽  
Author(s):  
Laurence Faivre ◽  
Martine Le Merrer ◽  
Serges Douvier ◽  
Nicole Laurent ◽  
Christel Thauvin-Robinet ◽  
...  
Keyword(s):  
Type Ii ◽  
Germline Mosaicism ◽  
Achondrogenesis Type

scholarly journals Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2

2020 ◽  
Author(s):  
Stylianos E. Antonarakis ◽  
Ales Holoubek ◽  
Melivoia Rapti ◽  
Jesse Rademaker ◽  
Jenny Meylan ◽  
...  
Keyword(s):  
Cell Cycle Progression ◽  
Kinase Activity ◽  
De Novo ◽  
Synonymous Substitution ◽  
Kinase Domain ◽  
Germline Mosaicism ◽  
Knobloch Syndrome ◽  
Pathogenic Variants ◽  
Cytoskeletal Dynamics

AbstractKnobloch syndrome is an autosomal recessive phenotype mainly characterized by retinal detachment and encephalocele caused by biallelic pathogenic variants in the COL18A1 gene. However, there are patients clinically diagnosed as Knobloch syndrome with unknown molecular etiology not linked to COL18A1. We studied an historical pedigree (published in 1998) designated as KNO2 (Knobloch type 2 syndrome with intellectual disability, autistic behavior, retinal degeneration, encephalocele). Whole exome sequencing of the two affected siblings and the normal parents resulted in the identification of a PAK2 non-synonymous substitution p.(Glu435Lys) as a causative variant. The variant was monoallelic and apparently de novo in both siblings indicating a likely germline mosaicism in one of the parents; the mosaicism however could not be observed after deep sequencing of blood parental DNA. PAK2 encodes a member of a small group of serine/threonine kinases; these P21-activating kinases (PAKs) are essential in signal transduction and cellular regulation (cytoskeletal dynamics, cell motility, death and survival signaling, and cell cycle progression). Structural analysis of the PAK2 p.(Glu435Lys) variant which is located in the kinase domain of the protein predicts a possible compromise in the kinase activity. Functional analysis of the p.(Glu435Lys) PAK2 variant in transfected HEK293T cells results in a partial loss of the kinase activity. PAK2 has been previously suggested as an autism related gene. Our results show that PAK2 induced phenotypic spectrum is broad and not fully understood. We conclude that the KNO2 syndrome in the studied family is dominant and caused by a deleterious variant in the PAK2 gene.

scholarly journals Achondrogenesis type 2 in a newborn with a novel mutation on the COL2A1 gene

2019 ◽  
Vol 22 (1) ◽  
pp. 89-94 ◽  
Author(s):  
P Dogan ◽  
IG Varal ◽  
O Gorukmez ◽  
MO Akkurt ◽  
A Akdag
Keyword(s):  
Neonatal Intensive Care ◽  
Novel Mutation ◽  
Lung Hypoplasia ◽  
Col2a1 Gene ◽  
Missense Variation ◽  
Next Generation Sequencing Ngs ◽  
Achondrogenesis Type ◽  
Generation Sequencing ◽  
Lethal Skeletal Dysplasia

AbstractAchondrogenesis is a group of rare and fatal disorders occurring in approximately one in every 40,000-60,000 newborns. Achondrogenesis is classified in three groups, as Achondrogenesis type 1A (Houston-Harris type or AC-G1A), Achondrogenesis type 1B (Parenti-Fraccaro type or ACG1B) and Achondrogenesis type 2 (Langer-Saldino type or ACG2), depending on clinical and radiological findings. Achondrogenesis Type 2 is a lethal skeletal dysplasia that is typically characterized by short arms and legs, a small chest with short ribs, lung hypoplasia, a prominent forehead, a small chin, and an enlarged abdomen that may accompanied by polydramnios and hydrops. This study contributes to the literature by presenting a patient who was admitted to the Level ΙΙΙ Neonatal Intensive Care Unit (NICU), Bursa, Turkey), with extremely short extremities, a small chest, abdominal distention and respiratory distress, who was diagnosed with ACG2. On the COL2A1 gene, genetic analysis with next generation sequencing (NGS), was revealed to have a heterozygous missense variation, c.2546G>A, p.Gly849Asp mutation, which is a different genetic variant that has not been previously described in the literature.

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