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MICROTIA IS MORE SEVERE IN CHILDREN WITH OTHER ANOMALIES

  1. Top of page
  2. MICROTIA IS MORE SEVERE IN CHILDREN WITH OTHER ANOMALIES
  3. SOCIAL NETWORKING SITES SEEN AS GENETICS RESEARCH RECRUITMENT TOOL
  4. GENOMIC SEQUENCING LEADS TO EXPANDED PHENOTYPE OF BARTSOCAS-PAPAS SYNDROME

Luquetti et al (p. 1051, DOI: 10.1002/ajmg.a.35888) report that frequency and severity of congenital external ear deformities, known as microtia, are greater in children with other specific anomalies.

Because microtia's etiology is usually unknown, the researchers analyzed data from cases of microtia diagnosed from more than 5 million live births (LB) and stillbirths (SB) in hospitals participating in the Latin American Collaborative Study of Congenital Malformations between 1967 and 2009.

The researchers identified 818 LB and SB with microtia, and at least one additional nonrelated major congenital anomaly, plus 15,969 control LB and SB, each with two or more unrelated major congenital anomalies except microtia.

Logistic regression analysis identified preferential associations for 10 congenital anomalies, most of them in the craniofacial region. These include facial asymmetry, choanal atresia, and eyelid colobomata. Analysis by type of microtia association showed that for cleft lip and palate, macrostomia, and limb reduction defects, frequency increased with the severity. By contrast, the frequency tended to be the same for other anomalies across all types of microtia, the researchers reported.

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Figure Figure 1. Photographs of individuals with microtia, a congenital external ear anomaly whose etiology is usually unknown.

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SOCIAL NETWORKING SITES SEEN AS GENETICS RESEARCH RECRUITMENT TOOL

  1. Top of page
  2. MICROTIA IS MORE SEVERE IN CHILDREN WITH OTHER ANOMALIES
  3. SOCIAL NETWORKING SITES SEEN AS GENETICS RESEARCH RECRUITMENT TOOL
  4. GENOMIC SEQUENCING LEADS TO EXPANDED PHENOTYPE OF BARTSOCAS-PAPAS SYNDROME

Online social networking sites (SNS) such as Facebook may provide researchers with a global portal through which they can recruit participants for high-quality, lower-cost research, write Reaves and Bianchi (p. 951, DOI: 10.1002/ajmg.a.35903).

The authors describe a small number of genetics studies that employed Facebook as a recruiting tool. The researchers of two studies used paid Facebook advertising to recruit study subjects, at a lower cost than that of traditional methods. Researchers in two other studies surveyed Facebook users to help elucidate consumer understanding and views of direct-to-consumer (DTC) testing, while researchers in a third study used Facebook in combination with other websites to recruit participants for an online survey of parents of children with trisomy 13 ortrisomy 18, note Reaves and Bianchi.

Other nongenetics studies have used free, targeted Facebook searches, rather than advertising, to recruit survey participants. Some medical researchers have posted study recruitment messages to Facebook pages or groups and have used Facebook to locate missing study participants to follow-up with in longitudinal research.

Facebook-based subject recruitment may have particular value for research on prenatal genetic testing, given the prevalence of SNS use among women of childbearing age. There is also potential for recruiting patients with rare genetic diseases through Facebook pages and SNS groups established by patient advocacy organizations, the authors add. However, they note that SNS use in medical genetics research has such limitations as the potential for sample bias and the underrepresentation of men and elderly individuals.

GENOMIC SEQUENCING LEADS TO EXPANDED PHENOTYPE OF BARTSOCAS-PAPAS SYNDROME

  1. Top of page
  2. MICROTIA IS MORE SEVERE IN CHILDREN WITH OTHER ANOMALIES
  3. SOCIAL NETWORKING SITES SEEN AS GENETICS RESEARCH RECRUITMENT TOOL
  4. GENOMIC SEQUENCING LEADS TO EXPANDED PHENOTYPE OF BARTSOCAS-PAPAS SYNDROME

Gripp et al (p. 1058, DOI: 10.1002/ajmg.a.35913) describe how they used exome analysis to expand the phenotype of Bartsocas-Papas syndrome to an attenuated presentation resembling Hay-Wells syndrome, but lacking lethality and pterygia.

TP63 analysis and single nucleotide polymorphism (SNP) array yielded normal results for a patient with bilateral cleft lip andpalate, ankyloblepharon, sparse hair, dysplastic nails, and hypohidrosis, and normal development, aside from speech problems. But diagnostic exome analysis revealed a heterozygous nonsense mutation in KRT83, categorized as deleterious and associated with monilethrix, and a homozygous missense variant of unknown clinical significance in RIPK4, the authors say.

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Figure Figure 1. Facial photographs of the proband pre-operatively showing bilateral complete cleft lip and palate, at age 23 months (A). Proband after surgical cleft repair with subtle philtral scars, note normal brows and lashes, and slightly low-set ears, short and wide nasal tip (B,C).

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RIPK4 had just a few months prior been identified as a cause for Bartsocas-Papas syndrome. While the clinical diagnostic report implied the KRT83 mutation as a more likely cause for the patient's phenotype, clinical correlation, literature review, and use of computerized mutation analysis programs allowed the authors to identify the homozygous RIPK4 (c.488G > A; p.Gly163Asp) mutation as the underlying pathogenic change.

In contrast to the autosomal dominant Hay-Wells syndrome, Bartsocas-Papas syndrome is autosomal recessive, implying a 25% recurrence risk, the authors note.