Hereditary spherocytic anemia with deletion of the short arm of chromosome 8

Okamoto, Nobuhiko; Wada, Yoshinao; Nakamura, Yoich; Nakayama, Masahiro; Chiyo, Hideaki; Murayama, Kikuno; Inoue, Takahumi; Kanzaki, Akio; Yawata, Yoshihito; Hirono, Akira; Miwa, Shiro

doi:10.1002/ajmg.1320580306

Cited by 21 publications

(18 citation statements)

References 11 publications

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“…3) (Cau et al, 2005;Chilcote et al, 1987;Cohen et al, 1991;Dode et al, 2003;Kitatani et al, 1988;Lux et al, 1990;Okamoto et al, 1995;Stratton et al, 1992;Tsukahara et al, 1995;Vermeulen et al, 2002). This region is known to be the region responsible for the clinical entities associated with Kallmann syndrome and hereditary spherocytosis.…”

Section: Discussionmentioning

confidence: 99%

“…One of the genes responsible for hereditary spherocytosis is ankyrin 1 gene (ANK1), located on 8p11.21 (Lux et al, 1990); many mutations of ANK1 have been reported to date (Eber et al, 1996;Miraglia del Giudice et al, 1998). Because haploinsufficiency of ANK1 can cause hereditary spherocytosis, some patients with 8p11.2 deletions have been reported to display hereditary spherocytosis (Cau et al, 2005;Okamoto et al, 1995).…”

Section: Introductionmentioning

confidence: 98%

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A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features

Miya

Shimojima

Sugawara

et al. 2012

Gene

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 98%

A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features

Miya

Shimojima

Sugawara

et al. 2012

Gene

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“…In the remaining 25% of patients autosomal recessive (AR) and de novo mutations were observed (Table 1). In rare cases, HS can be associated to psychomotor developmental delay and autism in contiguous gene syndromes due to large genomic deletions, including ANK1 20,21 or SPTB genes. 22,23 Finally, prenatal hydrops fetalis has been rarely observed in patients with mutations in SLC4A1 24 and SPTA-SPTB genes.…”

mentioning

confidence: 99%

New insights on hereditary erythrocyte membrane defects

et al. 2016

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© Ferrata Storti Foundationmary role in the removal of aged RBCs. In order to perform these journeys RBCs must possess and maintain a significant deformability. The main author of this property is certainly the membrane, that ensures both mechanical stability and deformability. After the first proposed model of the RBC membrane skeleton 36 years ago, 1 containing the core elements of the modern model, many additional proteins have been discovered during the intervening decades, and their structures and interactions have been defined. RBC membrane structure has been extensively covered by excellent reviews.2,3 Herein we summarize the main concepts. RBC membrane is composed by a fluid double layer of lipids in which approximately 20 major proteins and at least 850 minor ones are embedded. 4 The membrane is attached to an intracellular cytoskeleton by protein-protein and lipid-protein interactions that confer the erythrocyte shape, stability and deformability. The transmembrane proteins have mainly a transporter function. However, several of these also have a structural function, usually performed by an intracytoplasmic domain interacting with cytoskeletal proteins.The lipid bilayer acts as a barrier for the retention of cations and anions within the red cells, while it allows water molecules to pass through freely. Human erythrocytes have high intracellular K + and low intracellular Na + contents when compared with the corresponding ion concentrations in the plasma. The maintenance of this cation gradient between the cell and its environment involves a passive outward movement of K + , which is pumped back by the action of an ATP-dependent Na + /K + pump in exchange for Na+ ions. This protein belongs to a class of transmembrane proteins with a transport function (Figure 1). The third and more important component of the RBC membrane is the cytoskeleton, a protein network that laminates the inner surface of the membrane. Spectrin aand β-chains, proteins 4.1, or 4.1R, and actin are the main components of this skeleton, maintaining the biconcave shape of the RBC. These components are connected to each other in two protein complexes; ankyrin and protein 4.1 complex. The former is composed by band 3 tetramers, Rh, RhAG, CD47, glycophorin A and protein 4.2. Whereas the protein 4.1 complex is composed by band 3 dimers binding adducins a-and β-, glycophorin C, GLUT1 and stomatin (Figure 1). The ends of spectrin tetramers converge toward a protein 4.1 complex (junctional complex). Electron microscopy (EM) shows that this latter links the tail of six spectrin tetramers, forming a pseudo-hexagonal arrangement. 5Spectrin tetramers include anion transporters (band 3 or chloride/bicarbonate exchange). The capability of these transporters to form aggregates could define the half-life of RBCs, causing antibody binding and removal by the spleen. Defects that interrupt this vertical structure (spectrin-actin interaction) underlie the biochemical and molecular basis of hereditary spherocytosis (HS), whereas defects in horizo...

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“…There have also been several reviews on del 8p involving a total of 39 cases (Digilio et al, 1998;Okamoto et al, 1995;Wu et al, 1996). Individuals with del 8p are reported to share a distinctive pattern of clinical features, including low birth weight, growth restriction, intellectual disability, congenital heart defects, microcephaly, and mild facial anomalies (Digilio et al, 1998).…”

Section: Discussionmentioning

confidence: 98%

A Girl with Pervasive Developmental Disorder and Complex Chromosome Rearrangement Involving 8p and 10p

Zwaigenbaum

Sonnenberg

Heshka

et al. 2005

J Autism Dev Disord

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We report a 4-year-old girl with a de novo, apparently balanced complex chromosome rearrangement. She initially presented for assessment of velopharyngeal insufficiency due to hypernasal speech. She has distinctive facial features (long face, broad nasal bridge, and protuberant ears with simplified helices), bifid uvula, strabismus, and joint laxity. She is developmentally delayed, with language and cognitive skills approximately 2 SD below the mean expected for her age, and meets ADI, ADOS, and DSM-IV criteria for pervasive developmental disorder. She has poor eye contact, atypical communication and social interaction, repetitive behaviours and significant difficulties with processing sensory input. Her karyotype is characterized by the presence of two derivative chromosomes; 46,XX, der(8)(10pter- >10pl2.32::8p12- >8qter), der(l0)(8pter- >8p21.3::10p12.32- >10p11.23::8p21.3- > 8p12::10p11.23- >l0qter). The der(8) is a result of translocation of the segment 10p12.32-pter onto 8p12. The der(l0) has two 8p segments collectively from 8p12-pter in that the segment 8p21.3-pter is translocated onto 10p12.32 and the segment 8p12-p21.3 is inserted at 10p11.23. FISH analysis showed no microdeletion of the major locus at 22q11.2 nor for the minor locus at 10p13p14. This case suggests that aberrations at 8p12, 8p21.3, 10p11.23 and/or 10p12.32 may result in pervasive developmental disorder, associated with mild cognitive delay and specific facial anomalies.

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Hereditary spherocytic anemia with deletion of the short arm of chromosome 8

Cited by 21 publications

References 11 publications

A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features

A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features

New insights on hereditary erythrocyte membrane defects

A Girl with Pervasive Developmental Disorder and Complex Chromosome Rearrangement Involving 8p and 10p

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