Validity of the<i>Hfm</i>Transgenic Mouse as a Model for Hemifacial Microsomia

Cousley, Richard; Naora, Hiroyuki; Yokoyama, Minesuke; Kimura, Minoru; Otani, Hiroki

doi:10.1597/1545-1569(2002)039<0081:vothtm>2.0.co;2

Cited by 31 publications

(20 citation statements)

References 39 publications

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“…Though research using model organisms has proven powerful for exploration of etiology and pathogenesis of many craniofacial conditions, there are few examples of such investigations in CFM. Few models with teratogenic exposures and mutants that demonstrate features of CFM have been thoroughly investigated [Poswillo, ; Juriloff et al, ; Naora et al, ; Cousley et al, ; Hartsfield, ]. In addition, the descriptions of craniofacial anomalies in model organisms are often not specific enough to determine the correlation with human phenotypes.…”

Section: Opportunities To Advance Cfm Researchmentioning

confidence: 99%

Clinical care in craniofacial microsomia: A review of current management recommendations and opportunities to advance research

Heike¹,

Hing²,

Aspinall³

et al. 2013

American J of Med Genetics Pt C

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Craniofacial microsomia (CFM) is a complex condition associated with microtia, mandibular hypoplasia, and preauricular tags. It is the second most common congenital facial condition treated in many craniofacial centers and requires longitudinal multidisciplinary patient care. The purpose of this article is to summarize current recommendations for clinical management and discuss opportunities to advance clinical research in CFM.

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Section: Opportunities To Advance Cfm Researchmentioning

confidence: 99%

Clinical care in craniofacial microsomia: A review of current management recommendations and opportunities to advance research

Heike¹,

Hing²,

Aspinall³

et al. 2013

American J of Med Genetics Pt C

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“…The developmental origin of HFM is therefore more likely due to disruption of early mesodermal components that eventually give rise to neural crest cells that populate the face [Cousley and Wilson, ]. A number of more recent animal models have phenocopied HFM, including Fgf8 haploinsufficiency [Albertson and Yelick, ] and the Hfm mouse model [Cousley et al, ], and suggest a more likely defect in chondrogenesis or early mesodermal development [Kaye et al, ]. A recent genome‐wide association study identified five candidate genes affecting facial shape in Europeans: PRDM16 , PAX3 , TP63 , C5orf50 , and COL17A1 providing confirmatory links between common DNA variants and normal variation in human facial morphology [Liu et al, ].…”

Section: Discussionmentioning

confidence: 99%

Hemifacial microsomia in cat‐eye syndrome: 22q11.1–q11.21 as candidate loci for facial symmetry

Quintero‐Rivera

Martinez‐Agosto

2013

American J of Med Genetics Pt A

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Cat-Eye syndrome (CES), (OMIM 115470) also known as chromosome 22 partial tetrasomy or inverted duplicated 22q11, was first reported by Haab [1879] based on the primary features of eye coloboma and anal atresia. However, >60% of the patients lack these primary features. Here, we present a 9-month-old female who at birth was noted to have multiple defects, including facial asymmetry with asymmetric retrognathia, bilateral mandibular hypoplasia, branchial cleft sinus, right-sided muscular torticollis, esotropia, and an atretic right ear canal with low-to-moderate sensorineural hearing loss, bilateral preauricular ear tag/pits, and two skin tags on her left cheek. There were no signs of any colobomas or anal atresia. Hemifacial microsomia (HFM) was suspected clinically. Chromosome studies and FISH identified an extra marker originated from 22q11 consistent with CES, and this was confirmed by aCGH. This report expands the phenotypic variability of CES and includes partial tetrasomy of 22q11.1-q11.21 in the differential diagnosis of HFM. In addition, our case as well as the previous association of 22q11.2 deletions and duplications with facial asymmetry and features of HFM, supports the hypothesis that this chromosome region harbors genes important in the regulation of body plan symmetry, and in particular facial harmony.

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“…Animal model studies can also serve as confirmations for the candidate gene method studies. In terms of microtia, a mouse model based on a transgenic mutation of Hfm (B1 to B3 on chromosome 10) has been successfully established and utilized for studying the HFM‐microtia spectrum [Naora et al, 1994; Cousley et al, 2002]. More recently, Pact ‐null mouse model established by Rowe et al [2006] was suggested as an animal model of human microtia.…”

Section: To the Editormentioning

confidence: 99%